MCID: PYR011
MIFTS: 35

Pyropoikilocytosis malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Pyropoikilocytosis

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Aliases & Descriptions for Pyropoikilocytosis:

Name: Pyropoikilocytosis 50 12
Hereditary Pyropoikilocytosis 46 23 68 25 66
Hpp 23 68
 
Pyropoikilocytosis, Hereditary 48
Pyropoikilocytosis Hereditary 46

Characteristics:

HPO:

62
pyropoikilocytosis:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 266140
MedGen35 C0520739

Summaries for Pyropoikilocytosis

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OMIM:50 Hereditary pyropoikilocytosis was originally described by Zarkowsky et al. (1975) as a distinct hemolytic anemia... (266140) more...

MalaCards based summary: Pyropoikilocytosis, also known as hereditary pyropoikilocytosis, is related to hypophosphatasia and hereditary elliptocytosis, and has symptoms including hemolytic anemia, elliptocytosis and microspherocytosis. An important gene associated with Pyropoikilocytosis is SPTA1 (Spectrin Alpha, Erythrocytic 1), and among its related pathways are L1CAM interactions and Interaction between L1 and Ankyrins. Affiliated tissues include testes.

UniProtKB/Swiss-Prot:68 Hereditary pyropoikilocytosis: Autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.

Wikipedia:69 Hereditary pyropoikilocytosis (HPP) is an autosomal recessive form of hemolytic anemia characterized by... more...

Related Diseases for Pyropoikilocytosis

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Diseases related to Pyropoikilocytosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1hypophosphatasia11.0
2hereditary elliptocytosis10.4
3hereditary spherocytosis10.0
4malaria9.9
5hemolytic anemia9.9
6congenital hemolytic anemia9.9
7spherocytosis, type 39.8HPP1, SPTA1
8elliptocytosis-29.7HPP1, SPTA1
9hepatitis9.4SPTA1, SPTB
10pupil disease9.3SPTA1, SPTB
11plasmodium vivax malaria9.1SPTA1, SPTB
12pyropoikilocytosis9.0HPP1, SPTA1, SPTB

Graphical network of diseases related to Pyropoikilocytosis:



Diseases related to pyropoikilocytosis

Symptoms for Pyropoikilocytosis

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Symptoms by clinical synopsis from OMIM:

266140

Clinical features from OMIM:

266140

HPO human phenotypes related to Pyropoikilocytosis:

id Description Frequency HPO Source Accession
1 hemolytic anemia HP:0001878
2 elliptocytosis HP:0004445
3 microspherocytosis HP:0004835
4 pyropoikilocytosis HP:0004839

Drugs & Therapeutics for Pyropoikilocytosis

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Interventional clinical trials:

idNameStatusNCT IDPhase
1A Novel Mutation of the Spectrin GeneCompletedNCT00723567

Search NIH Clinical Center for Pyropoikilocytosis

Genetic Tests for Pyropoikilocytosis

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Genetic tests related to Pyropoikilocytosis:

id Genetic test Affiliating Genes
1 Hereditary Pyropoikilocytosis25 23 SPTA1

Anatomical Context for Pyropoikilocytosis

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MalaCards organs/tissues related to Pyropoikilocytosis:

34
Testes

Animal Models for Pyropoikilocytosis or affiliated genes

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Publications for Pyropoikilocytosis

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Articles related to Pyropoikilocytosis:

(show all 39)
idTitleAuthorsYear
1
Clinical Image: Hereditary Elliptocytosis with Pyropoikilocytosis. (26377499)
2015
2
Transfusion medicine illustrated. Red blood cell anomalies in the context of hereditary pyropoikilocytosis. (22882093)
2012
3
Detection of hereditary pyropoikilocytosis by the eosin-5-maleimide (EMA)-binding test is attributable to a marked reduction in EMA-reactive transmembrane proteins. (21054813)
2011
4
Effect of subtotal splenectomy for management of hereditary pyropoikilocytosis. (18492110)
2008
5
Nonsense mutations of the alpha-spectrin gene in hereditary pyropoikilocytosis. (18815189)
2008
6
Using the eosin-5-maleimide binding test in the differential diagnosis of hereditary spherocytosis and hereditary pyropoikilocytosis. (18454487)
2008
7
Hereditary pyropoikilocytosis: a rare but potentially severe form of congenital hemolytic anemia. (17279012)
2007
8
A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred. (16150946)
2005
9
Hereditary pyropoikilocytosis and the spectrin St. Claude allele. (14687038)
2004
10
Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin: application to the study of hereditary elliptocytosis and pyropoikilocytosis. (8755921)
1996
11
Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis. (9075575)
1996
12
Parvovirus B19 induced red blood cell aplasia in a patient with hereditary pyropoikilocytosis. (7795252)
1995
13
Hereditary pyropoikilocytosis. Clinical and laboratory analysis in eight infants and young children. (8418610)
1993
14
Molecular basis of spectrin deficiency in hereditary pyropoikilocytosis. (8364214)
1993
15
A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin. (1541680)
1992
16
Hereditary pyropoikilocytosis: A case report with thermal studies and scanning electron microscopy. (17590771)
1991
17
Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide. (1878597)
1991
18
A defect in alpha-spectrin mRNA accumulation in hereditary pyropoikilocytosis. (1845156)
1991
19
Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain. (2328319)
1990
20
Alteration of the erythrocyte membrane skeletal ultrastructure in hereditary spherocytosis, hereditary elliptocytosis, and pyropoikilocytosis. (2364170)
1990
21
Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis. (2346784)
1990
22
Malaria, hereditary elliptocytosis, and pyropoikilocytosis. (2564967)
1989
23
Spectrin-alpha I/61: a new structural variant of alpha-spectrin in a double-heterozygous form of hereditary pyropoikilocytosis. (3167214)
1988
24
Hereditary pyropoikilocytosis and elliptocytosis in a Caucasian family. Transmission of the same molecular defect in spectrin through three generations with different clinical expression. (3692477)
1987
25
Molecular determinants of clinical expression of hereditary elliptocytosis and pyropoikilocytosis. (3620700)
1987
26
Clinical and laboratory study of two Caucasian families with hereditary pyropoikilocytosis and hereditary elliptocytosis. (3604989)
1987
27
Partial spectrin deficiency in hereditary pyropoikilocytosis. (3955236)
1986
28
Abnormal transbilayer mobility of phosphatidylcholine in hereditary pyropoikilocytosis reflects the increased heat sensitivity of the membrane skeleton. (3995028)
1985
29
Hereditary pyropoikilocytosis: report of two cases from Saudi Arabia. (6476002)
1984
30
Abnormalities in spectrin structure and function in hereditary pyropoikilocytosis and hereditary elliptocytosis. (6473460)
1984
31
Identification of the hereditary pyropoikilocytosis carrier state. (6722357)
1984
32
Molecular and functional changes in spectrin from patients with hereditary pyropoikilocytosis. (6863544)
1983
33
Molecular heterogeneity of hereditary pyropoikilocytosis: identification of a second variant of the spectrin alpha-subunit. (6640107)
1983
34
Hereditary pyropoikilocytosis and elliptocytosis: clinical, laboratory, and ultrastructural features in infants and children. (7099765)
1982
35
The pyropoikilocytosis-elliptocytosis syndrome in a black South African infant: clinical and hematological features. (7149173)
1982
36
Molecular defect of spectrin in hereditary pyropoikilocytosis. Alterations in the trypsin-resistant domain involved in spectrin self-association. (7130392)
1982
37
Altered assembly of spectrin in red cell membranes in hereditary pyropoikilocytosis. (7448405)
1981
38
Altered spectrin dimer-dimer association and instability of erythrocyte membrane skeletons in hereditary pyropoikilocytosis. (7276161)
1981
39
Effect of heat on the circular dichroism of spectrin in hereditary pyropoikilocytosis. (447859)
1979

Variations for Pyropoikilocytosis

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UniProtKB/Swiss-Prot genetic disease variations for Pyropoikilocytosis:

68
id Symbol AA change Variation ID SNP ID
1SPTA1p.Lys48ArgVAR_001335rs121918644
2SPTA1p.Leu207ProVAR_001339rs121918643

Clinvar genetic disease variations for Pyropoikilocytosis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SPTBNM_001024858.2(SPTB): c.6053C> G (p.Ala2018Gly)single nucleotide variantPathogenicrs121918647GRCh37Chr 14, 65234547: 65234547
2SPTA1NM_003126.2(SPTA1): c.135G> T (p.Arg45Ser)single nucleotide variantPathogenicrs121918637GRCh37Chr 1, 158655027: 158655027
3SPTA1NM_003126.2(SPTA1): c.82C> A (p.Arg28Ser)single nucleotide variantPathogenicrs121918642GRCh37Chr 1, 158655080: 158655080
4SPTA1NM_003126.2(SPTA1): c.82C> T (p.Arg28Cys)single nucleotide variantPathogenicrs121918642GRCh37Chr 1, 158655080: 158655080
5SPTA1NM_003126.2(SPTA1): c.83G> A (p.Arg28His)single nucleotide variantPathogenicrs121918641GRCh37Chr 1, 158655079: 158655079
6SPTA1NM_003126.2(SPTA1): c.620T> C (p.Leu207Pro)single nucleotide variantPathogenicrs121918643GRCh37Chr 1, 158650431: 158650431
7SPTA1NM_003126.2(SPTA1): c.143A> G (p.Lys48Arg)single nucleotide variantPathogenicrs121918644GRCh37Chr 1, 158655019: 158655019
8SPTA1NM_003126.2(SPTA1): c.2806-13T> Gsingle nucleotide variantPathogenicrs757147440GRCh37Chr 1, 158626459: 158626459
9SPTA1SPTA1, IVS22DS, G-A, +5single nucleotide variantPathogenic

Expression for genes affiliated with Pyropoikilocytosis

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Search GEO for disease gene expression data for Pyropoikilocytosis.

Pathways for genes affiliated with Pyropoikilocytosis

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Pathways related to Pyropoikilocytosis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3SPTA1, SPTB
29.3SPTA1, SPTB

GO Terms for genes affiliated with Pyropoikilocytosis

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Cellular components related to Pyropoikilocytosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1spectrinGO:00080919.9SPTA1, SPTB
2intrinsic component of the cytoplasmic side of the plasma membraneGO:00312359.5SPTA1, SPTB
3actin cytoskeletonGO:00156299.3SPTA1, SPTB
4spectrin-associated cytoskeletonGO:00147319.0SPTA1, SPTB

Biological processes related to Pyropoikilocytosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ER to Golgi vesicle-mediated transportGO:00068889.6SPTA1, SPTB
2actin filament cappingGO:00516939.5SPTA1, SPTB
3MAPK cascadeGO:00001659.4SPTA1, SPTB
4axon guidanceGO:00074119.3SPTA1, SPTB

Molecular functions related to Pyropoikilocytosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1actin filament bindingGO:00510159.3SPTA1, SPTB
2structural constituent of cytoskeletonGO:00052009.3SPTA1, SPTB
3Ras guanyl-nucleotide exchange factor activityGO:00050889.0SPTA1, SPTB

Sources for Pyropoikilocytosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet